Identity
HGNC
LOCATION
20p13
LOCUSID
ALIAS
BVVLS,BVVLS1,C20orf54,RFT2,RFVT3,bA371L19.1,hRFT2
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 113278
MIM: 613350
HGNC: 16187
Ensembl: ENSG00000101276
Variants:
dbSNP: 113278
ClinVar: 113278
TCGA: ENSG00000101276
COSMIC: SLC52A3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000101276 | ENST00000217254 | Q9NQ40 |
| ENSG00000101276 | ENST00000381944 | Q9NQ40 |
| ENSG00000101276 | ENST00000488495 | Q9NQ40 |
| ENSG00000101276 | ENST00000645534 | Q9NQ40 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33189404 | 2021 | BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes. | 2 |
| 34223992 | 2021 | Promotion of rs3746804 (p. L267P) polymorphism to intracellular SLC52A3a trafficking and riboflavin transportation in esophageal cancer cells. | 0 |
| 34384672 | 2021 | Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities. | 3 |
| 33189404 | 2021 | BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes. | 2 |
| 34223992 | 2021 | Promotion of rs3746804 (p. L267P) polymorphism to intracellular SLC52A3a trafficking and riboflavin transportation in esophageal cancer cells. | 0 |
| 34384672 | 2021 | Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities. | 3 |
| 30666517 | 2020 | An Association and Meta-Analysis of Esophageal Squamous Cell Carcinoma Risk Associated with PLCE1 rs2274223, C20orf54 rs13042395 and RUNX1 rs2014300 Polymorphisms. | 0 |
| 32888389 | 2020 | Functional variation of SLC52A3 rs13042395 predicts survival of Chinese gastric cancer patients. | 2 |
| 30666517 | 2020 | An Association and Meta-Analysis of Esophageal Squamous Cell Carcinoma Risk Associated with PLCE1 rs2274223, C20orf54 rs13042395 and RUNX1 rs2014300 Polymorphisms. | 0 |
| 32888389 | 2020 | Functional variation of SLC52A3 rs13042395 predicts survival of Chinese gastric cancer patients. | 2 |
| 30553531 | 2019 | Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients. | 4 |
| 30793323 | 2019 | An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. | 33 |
| 30553531 | 2019 | Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients. | 4 |
| 30793323 | 2019 | An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. | 33 |
| 29428966 | 2018 | SLC52A3 expression is activated by NF-κB p65/Rel-B and serves as a prognostic biomarker in esophageal cancer. | 26 |
Citation
Dessen P
SLC52A3 (solute carrier family 52 member 3)
Atlas Genet Cytogenet Oncol Haematol. 2010-10-01
Online version: http://atlasgeneticsoncology.org/gene/51683/slc52a3
